Close this search box.

Brooke Sadler, PhD and Gabriel Haller, PhD

Grant Title: The Contribution of Rare Variant and Copy-Number Variation to Risk of Sporadic CJD and Pleiotropy with Other Neurodegenerative Diseases

Location: Washington University School of Medicine

Grant Year: 2020



As not much is known about the risk factors for sporadic CJD, we are sequencing the exomes (coding portion of the genome) of ~250 sCJD patients. We plan to utilize specialized analysis programs and techniques to perform case-control analyses as well as look for associations with rare variants and copy-number variants and disease status. We will also compare these results with those of other neurodegenerative diseases to look for potential overlap with the neurodegeneration process more generally. For this last step we will make use of the thousands of Alzheimer Disease, frontotemporal dementia and Parkinson Disease samples currently available to us here at Washington University. We hope to use this as pilot data to get additional funding to sequence ~4,000 more samples available to us through our collaboration with the National Prion Disease Pathology Surveillance Center.

About the Researchers:

Dr. Ferreira received her PhD in Pharmaceutical Sciences from Universidade Federal do Rio de Janeiro, in Brazil. Currently she works as a postdoctoral fellow at National Institute of Allergy and Infectious Disease, NIH. She has devoted her career to investigate new therapies to treat prion diseases and more recently, she is also interested in developing diagnostic tools to detect neurodegenerative diseases, such as Alzheimer and prion diseases at early stages of disease, where therapeutic intervention is more likely to be successful.

Recipient of:

The Strides for CJD Research Grant

Contributed by: The Families of the CJD Foundation

Funds raised by the annual Strides for CJD run/walk have been applied to research grants awarded since 2016.

The CJD Foundation Grant

Contributed by: The Families of the CJD Foundation

Funds donated by supporters of the CJD Foundation have been applied to research grants awarded since 2009.